Apert Syndrome / Disease

Diseases & Conditions

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Apert Syndrome

Synonyms of Apert Syndrome

Acrocephalosyndactyly, Type I
ACS1
ACS I
Syndactylic Oxycephaly

Disorder Subdivisions

General Discussion
Apert syndrome, also known as acrocephalosyndactyly type I (ACS1), is a rare genetic disorder that is apparent at birth (congenital). The disorder is character-ized by distinctive malformations of the head that lead to distinctive facial features. In addition, the hands and/or feet may be webbed (syndactyly) and in some cases, mental retardation may also be present.

Among babies born with Apert syndrome, the fibrous joints between bones of the skull (sutures) close prematurely (craniosynostosis). The pressure of continued brain growth distorts various bones of the skull and the face. The skull is forced into one of several characteristic shapes. Often the head appears abnormally pointed at the top (acrocephaly). The distortion of the skull plates create changes in the facial bones leading to characteristic facial abnormalities, such as widely spaced eyes (ocular hypertelorism), abnormal protrusion of the eyes (exophthalmos), underdevelopment of midfacial regions (midface hypoplasia), and/or a narrow roof of the mouth (palate).

Malformations of the hands and feet may include unusually broad thumbs and great toes, short fingers, and/or partial to complete fusion (syndactyly) of certain fingers and toes (digits). Most commonly, there is complete fusion of bones within the second to the fourth fingers and the presence of a single common nail (mitten-like syndactyly).

In almost all instances, Apert syndrome results from new genetic changes (mutations) that appear to occur randomly for unknown reasons (sporadically). In rare cases, the disorder may be inherited as an autosomal dominant trait.

Organizations related to Apert Syndrome

AboutFace International
123 Edward St
Ontario None M5G 1E2
Phone #: 416-597-2229
800 #: 800-665-3223
e-mail: [email protected]
Home page: http://www.aboutfaceinternational.org
AmeriFace
PO Box 751112
Las Vegas NV 89136
Phone #: 702-769-9264
800 #: 888-486-1209
e-mail: [email protected]
Home page: http://www.ameriface.org
American Heart Association
National Center
Dallas TX 75231-4596
Phone #: 214-373-6300
800 #: 800-242-8721
e-mail: [email protected]
Home page: http://www.americanheart.org
Apert Support and Information Network
P.O. Box 1184
Fair Oaks CA 95628
Phone #: 916-961-1092
800 #: --
e-mail: [email protected]
Home page: http://www.apert.org
Apert Syndrome Support Group
8708 Kathy
St. Louis MO 63126
Phone #: 314-965-3356
800 #: --
e-mail: N/A
Home page: N/A
Children's Craniofacial Association
13140 Coit Road
Dallas TX 75240
Phone #: 214-570-9099
800 #: 800-535-3643
e-mail: [email protected]
Home page: http://www.ccakids.com
Congenital Heart Anomalies, Support, Education, & Resources
2112 North Wilkins Road
Swanton OH 43558
Phone #: 419-825-5575
800 #: --
e-mail: [email protected]
Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
Craniofacial Foundation of America
975 East Third Street
Chattanooga TN 37403
Phone #: 423-778-9192
800 #: 800-418-3223
e-mail: [email protected]
Home page: http://www.craniofacialcenter.com
Danish Apert Syndrome Association (Danmarks Apertforening)
Dronningeengen 17
Vedbaek Intl DK-2950
Phone #: +45- 45-89 0300
800 #: --
e-mail: [email protected]
Home page: N/A
FACES: The National Craniofacial Association
P.O. Box 11082
Chattanooga TN 37401
Phone #: 423-266-1632
800 #: 800-332-2373
e-mail: [email protected]
Home page: http://www.faces-cranio.org
Forward Face, Inc.
317 East 34th Street
New York NY 10016
Phone #: 212-684-5860
800 #: 800-393-3223
e-mail: [email protected]
Home page: http://www.forwardface.org
Headlines - Craniofacial Support
128 Beesmoor Road
Bristol Intl BS36 2JP
Phone #: 44--014-54-850557
800 #: N/A
e-mail: [email protected]
Home page: http://www.headlines.org.uk
Let's Face It (USA)
P.O. Box 29972
Bellingham WA 98228-1972
Phone #: 360-676-7325
800 #: --
e-mail: [email protected]
Home page: http://www.dent.umich.edu/faceit
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: [email protected]
Home page: http://www.madisonsfoundation.org
National Craniofacial Foundation
3100 Carlisle Street
Dallas TX 75204
Phone #: --
800 #: 800-535-3643
e-mail: N/A
Home page: N/A
National Foundation for Facial Reconstruction
317 East 34th St.
New York NY 10016
Phone #: 212-263-6656
800 #: 800-422-3223
e-mail: [email protected]
Home page: http://www.nffr.org
Sj?ldne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K None 1220
Phone #: 45 -33 -14 00 10
800 #: N/A
e-mail: [email protected]
Home page: http://www.raredisorders.dk
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: [email protected]
Home page: http://www.thearc.org/
University of Virginia Craniofacial Anomalies Clinic
Department of Plastic Surgery
Charlottesville VA 22908
Phone #: 804-924-5068
800 #: 800-251-3627
e-mail: [email protected]
Home page: N/A

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html